An
Autosomal recessive
mode(s) within the
Metabolic disorders/Lysosomal storage disorders
category
Conflicting classifications of pathogenicity
2
Likely pathogenic
9
Pathogenic
3
Pathogenic; risk factor
1
Pathogenic/Likely pathogenic
3
Uncertain significance
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000157.3(GBA1):c.[1197G>T];[1603C>T] | CompoundHeterozygote | Chr: | Likely pathogenic |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
||
| NM_000157.3(GBA1):c.[1448T>C];[167T>G] | CompoundHeterozygote | Chr: | Likely pathogenic |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
||
| NM_000157.3(GBA1):c.[1448T>C];[407C>T] | CompoundHeterozygote | Chr: | Likely pathogenic |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
||
| NM_000157.4(GBA1):c.538G>A (p.Asp180Asn) | Single nucleotide variant | Chr1:155238567 | Likely pathogenic | Missense variant | rs1285705042 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000157.4(GBA1):c.827C>T (p.Ser276Phe) | Single nucleotide variant | Chr1:155237513 | Conflicting classifications of pathogenicity | Missense variant | rs755512507 | |
| NM_000157.4(GBA1):c.970C>T (p.Arg324Cys) | Single nucleotide variant | Chr1:155237370 | Conflicting classifications of pathogenicity | Missense variant | rs765633380 | |
| NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn) | Single nucleotide variant | Chr1:155235753 | Uncertain significance | Missense variant | rs1571966221 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys) | Single nucleotide variant | Chr1:155235003 | Pathogenic | Missense variant | rs747506979 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000157.4(GBA1):c.866G>C (p.Gly289Ala) | Single nucleotide variant | Chr1:155237474 | Likely pathogenic | Missense variant | rs878853321 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser) | Single nucleotide variant | Chr1:155235303 | Likely pathogenic | Missense variant | rs878853320 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000157.4(GBA1):c.1459G>A (p.Ala487Thr) | Single nucleotide variant | Chr1:155235241 | Likely pathogenic | Missense variant | rs878853317 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000157.4(GBA1):c.1177C>G (p.Leu393Val) | Single nucleotide variant | Chr1:155236292 | Likely pathogenic | Missense variant | rs878853315 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000157.4(GBA1):c.415G>C (p.Ala139Pro) | Single nucleotide variant | Chr1:155239655 | Likely pathogenic | Missense variant|intron variant | rs878853314 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) | Single nucleotide variant | Chr1:155235252 | Pathogenic/Likely pathogenic | Missense variant | rs421016 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000157.4(GBA1):c.160G>T (p.Val54Leu) | Single nucleotide variant | Chr1:155240033 | Pathogenic | Missense variant|5 prime UTR variant | rs121908302 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) | Single nucleotide variant | Chr1:155235196 | Pathogenic | Missense variant | rs80356771 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000157.4(GBA1):c.1342G>C (p.Asp448His) | Single nucleotide variant | Chr1:155235727 | Pathogenic/Likely pathogenic | Missense variant | rs1064651 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Lifecell International Pvt. Ltd |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) | Single nucleotide variant | Chr1:155235252 | Pathogenic; risk factor | Missense variant | rs421016 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000157.4(GBA1):c.835C>G (p.Leu279Val) | Single nucleotide variant | Chr1:155237505 | Uncertain significance | Missense variant | rs1057519020 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_002778.4(PSAP):c.679_681del (p.Lys227del) | Deletion | Chr10:71828053 - 71828055 | Pathogenic/Likely pathogenic | Inframe_deletion | rs1431844269 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution